Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Spondylocostal Dysostosis-1 Associated With Pancreatic Heterotopia: Coincidence or True Association?

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2026

Darouich Sihem, Darouich Samia, Khemiri Ahmed, Bellamine Houda

Abstract excerpt

Spondylocostal dysostosis type 1 is caused by mutations in the DLL3 gene, which encodes a Notch1 ligand. These mutations lead to defective somitogenesis, resulting in a consistent pattern of abnormal vertebral segmentation. Disruptions in the Notch1 signaling pathways can potentially lead to extraskeletal anomalies, although specific associations with DLL3 mutations are less well-documented. We report a 23-week...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Choristoma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Heart Defects, Congenital

Share to Hernia, Diaphragmatic

Share to Intracellular Signaling Peptides and Proteins

Share to Membrane Proteins

Share to Pancreas

Source

Identifiers

PMID: 41527833
DOI: 10.1177/10935266251411748

Genes

DLL3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spondylocostal Dysostosis-1 Associated With Pancreatic Heterotopia: Coincidence or True Association?PMID 41527833Read ↗

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.Semantic proximity Read ↗

A Splice Acceptor Variant in DLL3 Is Associated with Spondylocostal Dysostosis in a Litter of Mixed-Breed Dogs.Semantic proximity Read ↗

Mutated MESP2 causes spondylocostal dysostosis in humans.Semantic proximity Read ↗

Defective somitogenesis and abnormal vertebral segmentation in man.Semantic proximity Read ↗

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.Semantic proximity Read ↗

The developmental biology of genetic Notch disordersSemantic proximity Read ↗

Integrative analysis of Lunatic Fringe variants associated with spondylocostal dysostosis type-III.Semantic proximity Read ↗

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients.Semantic proximity Read ↗

NOTCH3 -Related Lateral Meningocele Syndrome Presenting as Radiological Copenhagen Syndrome.Semantic proximity Read ↗

Novel Homozygous DLX5 and WNT10B Variants Expand the Genetic and Phenotypic Spectrum of Autosomal Recessive Split-Hand/Foot Malformations (SHFM1D and SHFM6).Semantic proximity Read ↗

Unique skeletal manifestations in patients with Primrose syndrome.Semantic proximity Read ↗

A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.